Biology subjects

de Souza, J. E. S.

Publications and source records attributed to de Souza, J. E. S..

4 recordsLinked to original sources

bioRxiv2023

Phylogenetic Analysis of the rfb Locus Genes of the Genus Leptospira of Serogroups Serjoe, Mini and Hebdomadis

Leptospirosis is a zoonosis of great impact on public health since it is considered a notifiable disease occurring mainly in tropical regions with poor sanitation and vulnerable socioeconomic conditions. It is caused by bacteria of the genus Leptospira and phylum Spirochaetes and contamination occurs through direct or indirect contact with the contaminating agent. In addition to taxonomic classification, which is performed through sequencing and the analysis of some marker genes, such as 16S rRNA and secY, they are usually classified based on their antigenic characteristics into serogroups and serovars. This kind of classification is largely applied in epidemiological studies and vaccine development. Despite its importance, few studies have been conducted to understand the evolutionary dynamics of the emergence or change of serology in this genus. In view of this, we applied phylogenetic methods in order to understand the evolutionary processes involving the serology of the genus. To this end, sequences of genes comprising the rfb locus from samples of serogroups Sejroe, Mini, and Hebdomadis (34 samples) were extracted and submitted to the phylogenetic pipeline, resulting in the inference of 75 maximum likelihood trees. Topology tests showed that most of the gene trees are significantly different from the species tree. We could depict the occurrence of lateral gene transfer between L. borgpetersenii and L. kirschneri; and L. interrogans and L. weilli. In this analysis, no evidence was found for the lateral gene transfer between samples of the Hardjo serovar of L. interrogans and L. borgpetersenii. Thus, it is also suggested that the occurrence of horizontal transfer of genes from the rfb locus between distinct species is less frequent than expected.

evolutionary biology↗

bioRxiv2020

A small interfering RNA (siRNA) database for SARS-CoV-2

Coronavirus disease 2019 (COVID-19) rapidly transformed into a global pandemic, for which a demand for developing antivirals capable of targeting the SARS-CoV-2 RNA genome and blocking the activity of its genes has emerged. In this work, we propose a database of SARS-CoV-2 targets for siRNA approaches, aiming to speed the design process by providing a broad set of possible targets and siRNA sequences. Beyond target sequences, it also displays more than 170 features, including thermodynamic information, base context, target genes and alignment information of sequences against the human genome, and diverse SARS-CoV-2 strains, to assess whether siRNAs targets bind or not off-target sequences. This dataset is available as a set of four tables in a single spreadsheet file, each table corresponding to sequences of 18, 19, 20, and 21 nucleotides length, respectively, aiming to meet the diversity of technology and expertise among labs around the world concerning siRNAs design of varied sizes, more specifically between 18 and 21nt length. We hope that this database helps to speed the development of new target antivirals for SARS-CoV-2, contributing to more rapid and effective responses to the COVID-19 pandemic.

bioinformatics↗

bioRxiv2020

Assessing the sex-related genomic composition difference using a K-mer-based approach: a case of study in Arapaima gigas (Pirarucu).

Arapaima gigas is one of the largest freshwater bony fish in the world, in which adults could weigh 200 kilograms and measure 3 meters in length. Due to its large size and its low-fat meat, Arapaima gigas has quickly become a species of special interest in fish-farming. One challenge faced during their production is the lack of an efficient sexing methodology, since their sexual maturation occurs late (around the third to the fifth year) and the genetic mechanisms linked to their sex determination system are not known yet. For a more sustainable management, it is of paramount importance to seek an effective and non-invasive method to differentiate sexually juvenile individuals of Arapaima gigas. For this, the establishment of genetic markers associated with sexual differentiation would be an advantageous tool. In this study, we proposed a k-mer based approach to identify genome features with sex-determining properties. For this purpose, we used genomic data from four adult representatives of Arapaima gigas, two males and two females, and counted the k-mers comprising them. As result, we found k-mers from repetitive regions with high difference and disproportion in the count among individuals of the opposite sex. These differences in the k-mer-based genomic composition indicate the existence of genetic factors involved in the sexing of individuals in Arapaima gigas.

genomics↗

bioRxiv2019

Novel Variants in COL4A3 and COL4A4 are Causes of Alport Syndrome in Rio Grande do Norte, Brazil

BackgroundAlport syndrome is a progressive and hereditary nephropathy, characterized by hematuria and proteinuria, and extrarenal manifestations as hearing loss and eye abnormalities. The disease can be expressed as autosomal recessive or dominant, caused by variants in COL4A3 and COL4A4 loci, respectively, or X-linked caused by variants in COL4A5 locus. MethodsTwo unrelated families with Alport Syndrome from northeast of Brazil were studied and whole exome sequencing were performed. DNA sequences were mapped against the human genome (GRCh38/hg38 build) to identify associated mutations. ResultsVariant analysis showed deleterious variants in COL4A3 and COL4A4 loci in chromosome 2. Two variants were detected with alternative alleles in a homozygous state in the probands. One novel premature stop codon at position 481 of COL4A3 protein is present in one family and one frameshift mutation leading to a premature stop codon at position 786 of COL4A4 protein in the other family. Both Alport cases presented their variants surrounded by a broad runs of homozygosity (ROH). ConclusionsThe autosome recessive inheritance coupled with the runs of homozygosity in both families suggest inbreeding.

genomics↗